coloboma/cysteine

Sábháiltear an nasc chuig an gearrthaisce

AiltTrialacha cliniciúlaPaitinní

Roghnaigh cineál sórtála

5 torthaí

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Ocular coloboma is a common eye malformation resulting from incomplete fusion of the optic fissure during development. Coloboma is often associated with microphthalmia and/or contralateral anophthalmia. Coloboma shows extensive locus heterogeneity associated with causative mutations identified in

Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

BACKGROUND Renal coloboma syndrome (RCS) is a highly variable syndrome characterized by renal and ocular abnormalities. It is associated in about 50 % of cases with mutations of PAX2, a gene encoding a transcription factor required during development. METHODS The case study involves two monozygotic

New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

OBJECTIVE To describe a new phenotype with an arginine-to-cysteine mutation at position 116 (Arg116Cys) in the CRYAA gene. METHODS We investigated a 4-generation French family with autosomal dominant cataract and performed a genetic linkage analysis using microsatellite DNA markers encompassing 15

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Microphthalmia, coloboma and cataract are part of a spectrum of developmental eye disorders in humans affecting ~ 12 per 100 000 live births. Currently, variants in over 100 genes are known to underlie these conditions. However, at least 40% of affected individuals remain without a clinical genetic

CRIM1 haploinsufficiency causes defects in eye development in human and mouse.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is characterized by microcornea with increased axial length, coloboma of the iris and of the optic disc, and severe

Bí ar ár
leathanach facebook

Herbal & Natural Medicine

An bunachar luibheanna míochaine is iomláine le tacaíocht ón eolaíocht

Oibreacha i 55 teanga
Leigheasanna luibhe le tacaíocht ón eolaíocht
Aitheantas luibheanna de réir íomhá
Léarscáil GPS idirghníomhach - clibeáil luibheanna ar an láthair (ag teacht go luath)
Léigh foilseacháin eolaíochta a bhaineann le do chuardach
Cuardaigh luibheanna míochaine de réir a n-éifeachtaí
Eagraigh do chuid spéiseanna agus fanacht suas chun dáta leis an taighde nuachta, trialacha cliniciúla agus paitinní

Clóscríobh symptom nó galar agus léigh faoi luibheanna a d’fhéadfadh cabhrú, luibh a chlóscríobh agus galair agus comharthaí a úsáidtear ina choinne a fheiceáil.
* Tá an fhaisnéis uile bunaithe ar thaighde eolaíoch foilsithe